{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7738620", "communityStandardTitle": [ "NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=464682[alleleid]", "alleleId": 464682, "preferredName": "NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/454091", "RCV": [ "RCV000545144", "RCV000576060", "RCV001311063", "RCV003409758" ], "variationId": 454091 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-91306246-C-T", "id": "15-91306246-C-T", "variant": "15:91306246 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.91306246C>T?assembly=hg19", "id": "chr15:g.91306246C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.90763016C>T?assembly=hg38", "id": "chr15:g.90763016C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/373525781", "rs": 373525781 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-91306246-C-T?dataset=gnomad_r2_1", "id": "15-91306246-C-T", "variant": "15:91306246 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-90763016-C-T?dataset=gnomad_r3", "id": "15-90763016-C-T", "variant": "15:90763016 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-90763016-C-T?dataset=gnomad_r4", "id": "15-90763016-C-T", "variant": "15:90763016 C / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 90763016, "referenceAllele": "C", "start": 90763015 } ], "hgvs": [ "NC_000015.10:g.90763016C>T", "CM000677.2:g.90763016C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 91306246, "referenceAllele": "C", "start": 91306245 } ], "hgvs": [ "NC_000015.9:g.91306246C>T", "CM000677.1:g.91306246C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89107250, "referenceAllele": "C", "start": 89107249 } ], "hgvs": [ "NC_000015.8:g.89107250C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 50645, "referenceAllele": "C", "start": 50644 } ], "hgvs": [ "NG_007272.1:g.50645C>T", "LRG_20:g.50645C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000520" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "C", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000355112.8:c.1933C>T" ], "proteinEffect": { "hgvs": "ENSP00000347232.3:p.Gln645Ter", "hgvsWellDefined": "ENSP00000347232.3:p.Gln645_Ser1417delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748636", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355112.8:c.1933C>T" }, "RefSeq": { "hgvs": "NM_000057.4:c.1933C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347232.3:p.Gln645Ter" }, "RefSeq": { "hgvs": "NP_000048.1:p.Gln645Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2015, "referenceAllele": "C", "start": 2014 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000648453.1:c.1933C>T" ], "proteinEffect": { "hgvs": "ENSP00000497646.1:p.Gln645Ter", "hgvsWellDefined": "ENSP00000497646.1:p.Gln645_Lys1386delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyThrLysSerAspSerValAlaGlnAlaArgValGlnTrpHisAsnLeuGlySerLeuGlnProLeuProProValLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769991" }, { "coordinates": [ { "allele": "T", "end": 2009, "referenceAllele": "C", "start": 2008 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000680772.1:c.1933C>T" ], "proteinEffect": { "hgvs": "ENSP00000506117.1:p.Gln645Ter", "hgvsWellDefined": "ENSP00000506117.1:p.Gln645_Ser1417delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780387" }, { "coordinates": [ { "allele": "T", "end": 2015, "referenceAllele": "C", "start": 2014 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000681142.1:c.1933C>T" ], "proteinEffect": { "hgvs": "ENSP00000506682.1:p.Gln645Ter", "hgvsWellDefined": "ENSP00000506682.1:p.Gln645_Ser1372delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyTrpSerPheProMetLeuProArgLeuValSerAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780754" }, { "coordinates": [ { "allele": "T", "end": 2051, "referenceAllele": "C", "start": 2050 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000355112.7:c.1933C>T" ], "proteinEffect": { "hgvs": "ENSP00000347232.3:p.Gln645Ter", "hgvsWellDefined": "ENSP00000347232.3:p.Gln645_Ser1417delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263336" }, { "coordinates": [ { "allele": "T", "end": 110, "referenceAllele": "C", "start": 109 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000559426.5:n.110C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS374573" }, { "coordinates": [ { "allele": "T", "end": 2140, "referenceAllele": "C", "start": 2139 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000559724.5:c.*857C>T" ], "proteinEffect": { "hgvs": "ENSP00000453359.1:n.*857C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS374810" }, { "coordinates": [ { "allele": "T", "end": 78, "referenceAllele": "C", "start": 77 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000560136.5:n.78C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS375127" }, { "coordinates": [ { "allele": "T", "end": 1984, "referenceAllele": "C", "start": 1983 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "ENST00000560509.5:c.1933C>T" ], "proteinEffect": { "hgvs": "ENSP00000454158.1:p.Gln645Ter", "hgvsWellDefined": "ENSP00000454158.1:p.Gln645_Ser1286delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS375398" }, { "@id": "http://reg.genome.network/allele/PA658678086", "coordinates": [ { "allele": "T", "end": 2051, "referenceAllele": "C", "start": 2050 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_000057.3:c.1933C>T" ], "proteinEffect": { "hgvs": "NP_000048.1:p.Gln645Ter", "hgvsWellDefined": "NP_000048.1:p.Gln645_Ser1417delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006122" }, { "@id": "http://reg.genome.network/allele/PA2826737443", "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "C", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287246.1:c.1933C>T" ], "proteinEffect": { "hgvs": "NP_001274175.1:p.Gln645Ter", "hgvsWellDefined": "NP_001274175.1:p.Gln645_Ser1417delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023283" }, { "@id": "http://reg.genome.network/allele/PA916016003", "coordinates": [ { "allele": "T", "end": 2051, "referenceAllele": "C", "start": 2050 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287247.1:c.1933C>T" ], "proteinEffect": { "hgvs": "NP_001274176.1:p.Gln645Ter", "hgvsWellDefined": "NP_001274176.1:p.Gln645_Ser1286delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023284" }, { "@id": "http://reg.genome.network/allele/PA2826740835", "coordinates": [ { "allele": "T", "end": 2217, "referenceAllele": "C", "start": 2216 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287248.1:c.808C>T" ], "proteinEffect": { "hgvs": "NP_001274177.1:p.Gln270Ter", "hgvsWellDefined": "NP_001274177.1:p.Gln270_Ser1042delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023285" }, { "coordinates": [ { "allele": "T", "end": 110, "referenceAllele": "C", "start": 109 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_006720632.2:c.-30C>T" ], "proteinEffect": { "hgvs": "XP_006720695.1:n.-30C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS073741" }, { "coordinates": [ { "allele": "T", "end": 1061, "referenceAllele": "C", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521881.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011520183.1:p.Gln207Ter", "hgvsWellDefined": "XP_011520183.1:p.Gln207_Ser979delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089040" }, { "coordinates": [ { "allele": "T", "end": 2039, "referenceAllele": "C", "start": 2038 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521882.1:c.1933C>T" ], "proteinEffect": { "hgvs": "XP_011520184.1:p.Gln645Ter", "hgvsWellDefined": "XP_011520184.1:p.Gln645_Gln907delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValIleValGlnProSerProIleSerLysPheThrAlaPheLeuSerProGlnArgGluThrTrpTyrProLeuAlaAlaAlaProHisLeuLeuProLeuValCysAlaArgLeuLeuSerLeuSerValValPheLysGlyHisProCysCysSerIleGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089041" }, { "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521881.2:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011520183.1:p.Gln207Ter", "hgvsWellDefined": "XP_011520183.1:p.Gln207_Ser979delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546362" }, { "coordinates": [ { "allele": "T", "end": 1980, "referenceAllele": "C", "start": 1979 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "XM_011521882.3:c.1933C>T" ], "proteinEffect": { "hgvs": "XP_011520184.1:p.Gln645Ter", "hgvsWellDefined": "XP_011520184.1:p.Gln645_Gln907delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValIleValGlnProSerProIleSerLysPheThrAlaPheLeuSerProGlnArgGluThrTrpTyrProLeuAlaAlaAlaProHisLeuLeuProLeuValCysAlaArgLeuLeuSerLeuSerValValPheLysGlyHisProCysCysSerIleGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546363" }, { "@id": "http://reg.genome.network/allele/PA658678086", "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "C", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_000057.4:c.1933C>T" ], "proteinEffect": { "hgvs": "NP_000048.1:p.Gln645Ter", "hgvsWellDefined": "NP_000048.1:p.Gln645_Ser1417delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662304", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355112.8:c.1933C>T" }, "RefSeq": { "hgvs": "NM_000057.4:c.1933C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347232.3:p.Gln645Ter" }, "RefSeq": { "hgvs": "NP_000048.1:p.Gln645Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826737443", "coordinates": [ { "allele": "T", "end": 2142, "referenceAllele": "C", "start": 2141 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287246.2:c.1933C>T" ], "proteinEffect": { "hgvs": "NP_001274175.1:p.Gln645Ter", "hgvsWellDefined": "NP_001274175.1:p.Gln645_Ser1417delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682382" }, { "@id": "http://reg.genome.network/allele/PA916016003", "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "C", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287247.2:c.1933C>T" ], "proteinEffect": { "hgvs": "NP_001274176.1:p.Gln645Ter", "hgvsWellDefined": "NP_001274176.1:p.Gln645_Ser1286delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682383" }, { "@id": "http://reg.genome.network/allele/PA2826740835", "coordinates": [ { "allele": "T", "end": 2198, "referenceAllele": "C", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287248.2:c.808C>T" ], "proteinEffect": { "hgvs": "NP_001274177.1:p.Gln270Ter", "hgvsWellDefined": "NP_001274177.1:p.Gln270_Ser1042delinsSerLeuSerPheProHisThrLysGluMetMetLysIlePheHisLysLysPheGlyLeuHisAsnPheArgThrAsnGlnLeuGluAlaIleAsnAlaAlaLeuLeuGlyGluAspCysPheIleLeuMetProThrGlyGlyGlyLysSerLeuCysTyrGlnLeuProAlaCysValSerProGlyValThrValValIleSerProLeuArgSerLeuIleValAspGlnValGlnLysLeuThrSerLeuAspIleProAlaThrTyrLeuThrGlyAspLysThrAspSerGluAlaThrAsnIleTyrLeuGlnLeuSerLysLysAspProIleIleLysLeuLeuTyrValThrProGluLysIleCysAlaSerAsnArgLeuIleSerThrLeuGluAsnLeuTyrGluArgLysLeuLeuAlaArgPheValIleAspGluAlaHisCysValSerGlnTrpGlyHisAspPheArgGlnAspTyrLysArgMetAsnMetLeuArgGlnLysPheProSerValProValMetAlaLeuThrAlaThrAlaAsnProArgValGlnLysAspIleLeuThrGlnLeuLysIleLeuArgProGlnValPheSerMetSerPheAsnArgHisAsnLeuLysTyrTyrValLeuProLysLysProLysLysValAlaPheAspCysLeuGluTrpIleArgLysHisHisProTyrAspSerGlyIleIleTyrCysLeuSerArgArgGluCysAspThrMetAlaAspThrLeuGlnArgAspGlyLeuAlaAlaLeuAlaTyrHisAlaGlyLeuSerAspSerAlaArgAspGluValGlnGlnLysTrpIleAsnGlnAspGlyCysGlnValIleCysAlaThrIleAlaPheGlyMetGlyIleAspLysProAspValArgPheValIleHisAlaSerLeuProLysSerValGluGlyTyrTyrGlnGluSerGlyArgAlaGlyArgAspGlyGluIleSerHisCysLeuLeuPheTyrThrTyrHisAspValThrArgLeuLysArgLeuIleMetMetGluLysAspGlyAsnHisHisThrArgGluThrHisPheAsnAsnLeuTyrSerMetValHisTyrCysGluAsnIleThrGluCysArgArgIleGlnLeuLeuAlaTyrPheGlyGluAsnGlyPheAsnProAspPheCysLysLysHisProAspValSerCysAspAsnCysCysLysThrLysAspTyrLysThrArgAspValThrAspAspValLysSerIleValArgPheValGlnGluHisSerSerSerGlnGlyMetArgAsnIleLysHisValGlyProSerGlyArgPheThrMetAsnMetLeuValAspIlePheLeuGlySerLysSerAlaLysIleGlnSerGlyIlePheGlyLysGlySerAlaTyrSerArgHisAsnAlaGluArgLeuPheLysLysLeuIleLeuAspLysIleLeuAspGluAspLeuTyrIleAsnAlaAsnAspGlnAlaIleAlaTyrValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682384" } ], "type": "nucleotide" }